Premium
Colorectal cancer screening and surveillance strategy for patients with Diamond Blackfan anemia: Preliminary recommendations from the Diamond Blackfan Anemia Registry
Author(s) -
Lipton Jeffrey M.,
Molmenti Christine L.S.,
Hussain Maryam,
Desai Pooja,
Florento Maria,
Atsidaftos Eva,
Vlachos Adrianna
Publication year - 2021
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.28984
Subject(s) - medicine , diamond–blackfan anemia , fanconi anemia , anemia , cancer , colorectal cancer , bone marrow failure , penetrance , oncology , pediatrics , dna repair , stem cell , genetics , haematopoiesis , ribosome , rna , gene , biology , phenotype
Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome characterized by red cell failure, congenital anomalies, poor linear growth, and cancer predisposition. Two previous analyses from the Diamond Blackfan Anemia Registry have quantified DBA as a cancer predisposition syndrome of moderate cancer penetrance. Patients with DBA have a 4.8‐fold higher relative risk of developing cancer with an overall cumulative incidence of 13.7% by age 45 years. The two most prevalent solid tumors are colorectal cancer (CRC) and osteogenic sarcoma. Current and evolving data support the institution of cancer screening and surveillance strategies for CRC in DBA.